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    UGDH UDP-glucose 6-dehydrogenase [ Homo sapiens (human) ]

    Gene ID: 7358, updated on 10-Dec-2024

    Summary

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    Official Symbol
    UGDHprovided by HGNC
    Official Full Name
    UDP-glucose 6-dehydrogenaseprovided by HGNC
    Primary source
    HGNC:HGNC:12525
    See related
    Ensembl:ENSG00000109814 MIM:603370; AllianceGenome:HGNC:12525
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    GDH; UGD; DEE84; EIEE84; UDPGDH; UDP-GlcDH
    Summary
    The protein encoded by this gene converts UDP-glucose to UDP-glucuronate and thereby participates in the biosynthesis of glycosaminoglycans such as hyaluronan, chondroitin sulfate, and heparan sulfate. These glycosylated compounds are common components of the extracellular matrix and likely play roles in signal transduction, cell migration, and cancer growth and metastasis. The expression of this gene is up-regulated by transforming growth factor beta and down-regulated by hypoxia. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]
    Expression
    Broad expression in colon (RPKM 31.0), liver (RPKM 26.9) and 23 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See UGDH in Genome Data Viewer
    Location:
    4p14
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (39498755..39527439, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (39468409..39497229, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (39500375..39529059, complement)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 11886 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21459 Neighboring gene lipoic acid synthetase Neighboring gene WD repeat domain 5C, pseudogene Neighboring gene HNF1 and NFE2L2 motif-containing MPRA enhancers 6 and 8 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15369 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15370 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21460 Neighboring gene UGDH antisense RNA 1 Neighboring gene small integral membrane protein 14 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21461 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21462 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21463 Neighboring gene RNA, U7 small nuclear 11 pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Structure and mechanism of human UDP-glucose 6-dehydrogenase. Egger S, et al. J Biol Chem, 2011 Jul 8. PMID 21502315, Free PMC Article
    2. Characterization of human UDP-glucose dehydrogenase reveals critical catalytic roles for lysine 220 and aspartate 280. Easley KE, et al. Biochemistry, 2007 Jan 16. PMID 17209547
    3. Alteration of the quaternary structure of human UDP-glucose dehydrogenase by a double mutation. Huh JW, et al. J Biochem Mol Biol, 2007 Sep 30. PMID 17927902
    4. UDP-glucose dehydrogenase modulates proteoglycan synthesis in articular chondrocytes: its possible involvement and regulation in osteoarthritis. Wen Y, et al. Arthritis Res Ther, 2014 Dec 3. PMID 25465897, Free PMC Article
    5. Computational analysis of the quaternary structural changes induced by point mutations in human UDP-glucose dehydrogenase. Lee HS, et al. Arch Biochem Biophys, 2009 Jun 1. PMID 19358821

    See all (123) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Phenotypic and genetic characteristics of 24 cases of early infantile epileptic encephalopathy in East China, including a rare case of biallelic UGDH mutations.
      Title: Phenotypic and genetic characteristics of 24 cases of early infantile epileptic encephalopathy in East China, including a rare case of biallelic UGDH mutations.
    2. UGDH promotes tumor-initiating cells and a fibroinflammatory tumor microenvironment in ovarian cancer.
      Title: UGDH promotes tumor-initiating cells and a fibroinflammatory tumor microenvironment in ovarian cancer.
    3. UDP-glucose 6-dehydrogenase lessens sorafenib sensitivity via modulating unfolded protein response.
      Title: UDP-glucose 6-dehydrogenase lessens sorafenib sensitivity via modulating unfolded protein response.
    4. Integration of Sugar Metabolism and Proteoglycan Synthesis by UDP-glucose Dehydrogenase.
      Title: Integration of Sugar Metabolism and Proteoglycan Synthesis by UDP-glucose Dehydrogenase.
    5. Targeting UDP-glucose dehydrogenase inhibits ovarian cancer growth and metastasis.
      Title: Targeting UDP-glucose dehydrogenase inhibits ovarian cancer growth and metastasis.
    6. UDP-glucose 6-dehydrogenase knockout impairs migration and decreases in vivo metastatic ability of breast cancer cells.
      Title: UDP-glucose 6-dehydrogenase knockout impairs migration and decreases in vivo metastatic ability of breast cancer cells.
    7. UDP-glucose 6-dehydrogenase regulates hyaluronic acid production and promotes breast cancer progression.
      Title: UDP-glucose 6-dehydrogenase regulates hyaluronic acid production and promotes breast cancer progression.
    8. This study defines UGDH as a key player for the production of extracellular matrix components that are essential for human brain development.
      Title: Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy.
    9. The crystal structures of UGDH(A104L) show that the allosteric switch still adopts the E and E* states, albeit with a more rigid protein core. However, the progress curves of UGDH(A104L) do not show hysteresis, which suggests that the E* and E states are now in rapid equilibrium.
      Title: Hysteresis and Allostery in Human UDP-Glucose Dehydrogenase Require a Flexible Protein Core.
    10. These data indicate that UGDH expression and localization are an early sero-diagnostic marker in addition to a poor prognostic indicator in lung AC patients.
      Title: Clinicopathological and prognostic significance of nuclear UGDH localization in lung adenocarcinoma.
    Submit: New GeneRIF Correction See all GeneRIFs (39)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Developmental and epileptic encephalopathy, 84
    MedGen: C5394081 OMIM: 618792 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables NAD binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables UDP-glucose 6-dehydrogenase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in UDP-glucuronate biosynthetic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in UDP-glucuronate biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in chondroitin sulfate biosynthetic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in gastrulation with mouth forming second ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in glycosaminoglycan biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in heparan sulfate proteoglycan biosynthetic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in neuron development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein hexamerization IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in extracellular exosome HDA PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    UDP-glucose 6-dehydrogenase
    Names
    UDP-Glc dehydrogenase
    UDP-glucose dehydrogenase
    uridine diphospho-glucose dehydrogenase
    NP_001171629.1
    NP_001171630.1
    NP_003350.1
    XP_005262724.1
    XP_054206766.1

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001184700.2 → NP_001171629.1  UDP-glucose 6-dehydrogenase isoform 2

      See identical proteins and their annotated locations for NP_001171629.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an exon in the coding region, compared to variant 1. The encoded isoform (2) is shorter, compared to isoform 1.
      Source sequence(s)
      AK097930, AL699883, AL708740, AU131705, BC022781, BG194936
      Consensus CDS
      CCDS54758.1
      UniProtKB/Swiss-Prot
      O60701
      Related
      ENSP00000422909.1, ENST00000501493.6
      Conserved Domains (1) summary
      cl27617
      Location:4 → 397
      UDPG_MGDP_dh; UDP-glucose/GDP-mannose dehydrogenase family, central domain

    2. NM_001184701.2 → NP_001171630.1  UDP-glucose 6-dehydrogenase isoform 3

      See identical proteins and their annotated locations for NP_001171630.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an exon in the 5' coding region and uses a downstream start codon, compared to variant 1. Isoform 3 has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AC021148, AK297737, AL708740, BC022781
      Consensus CDS
      CCDS54757.1
      UniProtKB/Swiss-Prot
      O60701
      Related
      ENSP00000426560.1, ENST00000507089.5
      Conserved Domains (1) summary
      cl27617
      Location:1 → 367
      UDPG_MGDP_dh; UDP-glucose/GDP-mannose dehydrogenase family, central domain

    3. NM_003359.4 → NP_003350.1  UDP-glucose 6-dehydrogenase isoform 1

      See identical proteins and their annotated locations for NP_003350.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AC021148, AF061016, AJ007702
      Consensus CDS
      CCDS3455.1
      UniProtKB/Swiss-Prot
      B3KUU2, B4DN25, O60589, O60701
      Related
      ENSP00000319501.6, ENST00000316423.11
      Conserved Domains (1) summary
      PLN02353
      Location:4 → 464
      PLN02353; probable UDP-glucose 6-dehydrogenase

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      39498755..39527439 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005262667.4 → XP_005262724.1  UDP-glucose 6-dehydrogenase isoform X1

      Conserved Domains (4) summary
      PLN02353
      Location:17 → 477
      PLN02353; probable UDP-glucose 6-dehydrogenase
      pfam00984
      Location:227 → 322
      UDPG_MGDP_dh; UDP-glucose/GDP-mannose dehydrogenase family, central domain
      pfam03720
      Location:345 → 459
      UDPG_MGDP_dh_C; UDP-glucose/GDP-mannose dehydrogenase family, UDP binding domain
      pfam03721
      Location:19 → 204
      UDPG_MGDP_dh_N; UDP-glucose/GDP-mannose dehydrogenase family, NAD binding domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      39468409..39497229 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054350791.1 → XP_054206766.1  UDP-glucose 6-dehydrogenase isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O60701.1 GenPept UniProtKB/Swiss-Prot:O60701

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